Cardiomyopathy

Question 1

gold standard to determine physical properties vetnricles

Answer 1

cardiac magnetic resonance image (CMR)

Question 2

Genetics ARVD/C

Answer 2

1. autosomal dominant
   (rare from recessive in families from Greece)
2. most common in individuals < 35

Question 3

two most common types cardiomyopathy

Answer 3

1. familial hypertrophic cardiomyopathy (HMC)

2. arrhythmogenic R ventricular dysplasia/cardiomyopathy (ARVD/C)

Question 4

Heard sounds possible observable in ARVD/C

Answer 4

1. s4
2. wide split s2
3. s3
4. s4
   * major clue to dx

Question 5

category of cardiomyopathy

Answer 5

based on pathological features of heart tissue

Question 6

Signs ARVD/C

Answer 6

arrhythmias

syncope

chest pain

palpitations

sudden cardiac death (second leading cause behind MHC)

Question 7

Genetic testing HCM

Answer 7

1. identify mutation in proband (pt starting point for genetic testing, i.e. first in family diagnosed)
2. test at risk relatives
3. mutation status CANNOT determine
   - age of onset
   - severity of symptoms
4. mutation status CAN
   - determine who is at risk and who needs close surveillance

Question 8

Genetic testing ARVD/C

Answer 8

1. 8 genes known to be assoc.
2. testing for at risk individuals routinely performed once mutation is identified in proband
3. 1st degree relative family members of proband should undergo initial screening with the onset of puberty and follow up exams every 2-3 years

Question 9

Leading cause of death in young athletes

Answer 9

HMC

-can be asymptomatic until sudden death

Question 10

Management ARVD/C

Answer 10

same as HCM

Goal: prevent arrhythmias, syncope, sudden cardiac death

1. pharm
2. anti-coagulant
3. implantable defibrillator
4. avoid endurance training
5. heart transplant

Question 11

S4 heart sound

Answer 11

can be heard in HMC and sometime in ARVD/C

1. low pitched sound immediately before S1
   - S1= lub (closing AV valves)
   - (S2=dub, closing semilunar valves)
2. S4 caused by stiffening of the walls of ventricles
   - blood flow turbulent as atria contract to force blood into ventricle

Question 12

screening HCM

Answer 12

1. electrocardiogram
2. echocardiogram
3. cardiac magnetic resonance imaging (CMR(
   - gold standard to determine physical properties of L ventricular wall

Question 13

Diagnosis HMC

Answer 13

difficult

1. personal and family hx
2. fatigue, arrhythmias, palpitations, presyncope, syncope, chest pain
   - any of these in someone < 35
3. family hx of sudden cardiac death, or unexplained death in 1st degree relative
4. family hx of heart failure, hypertrophic cardiomyopathy, heart transplant, stroke, blood clots

Question 14

Genetics HMC

Answer 14

1. autosomal dominant
2. over 20 genes involved, genes that encode sarcomere proteins
3. MYH7, MYBPC3, TNNT2, TNNI3 involved 1

Question 15

Clinically observable phases in ARVD/C

Answer 15

1. concealed phase
2. Symptomatic arryhtmias
3. R ventricular failure
4. complete pump failure

• left ventricular involved can occur in any one of these phases
• sudden cardiac death can occur in any one phase

Question 16

Arrythmogenic Right Ventricular Dysplasia/Cardiomyopathy (ARVD/C)

Answer 16

1. replacement of normal heart muscle in R ventricle by fibrous, fatty tissue
   - weakened muscle, impaired contractibility

Question 17

Dx ARVD/C components

Answer 17

1. assesss structural alterations
2. level of heart dysfunction
3. tissue characterization
4. family hx

Question 18

PE ARVD/D

Answer 18

1. normal in 50%
2. EXTRA HEART SOUND
   - S4
   - Wide-plit S2
   - presence S3 or S4
3. characteristic ECG in 90% affected pt.
4. dilation R ventricle can cause asymmetry in chest wall
5. male, normally btwn. 19-40

Question 19

Defining characteristic HMC

Answer 19

1. a portion (usually L ventricle) if hypertrophied

- functional impairment of cardiac muscle

Question 20

Second leading cause sudden cardiac death

Answer 20

ARVD/C

Question 21

Genes involved in HMC

Answer 21

over 20 genes discovered, most common are

1. MYH7
2. MYBPC3
3. TNNT2
4. TNNI3

^genes encoding sarcomere proteins

*some mutations are more malignant than others

Question 22

Tx/Management HCM

Answer 22

Primary goal: prevent arrhythmia, syncope, and sudden cardiac death

1. pharmacologic therapy
2. implantable defibrillators
3. anti-coagulants to prevent thromboembolism if in afib
4. avoid endurance training
5. heart transplant

Question 23

6 suspecting signs HMC

Answer 23

1. fatigue
2. heart palpitations
3. presyncope
4. syncope
5. chest pain
6. S4 heart sound**

Question 24

cardiomyopathy

Answer 24

def: condition where there is dysfunction of the heart muscle
- increased risk for arrhythmia and sudden cardiac death

Question 25

Sarcomere

Answer 25

basic unit of muscle